Case report: Non-EBV associated cerebral vasculitis and cerebral hemorrhage in X-linked lymphoproliferative disease.

X-linked lymphoproliferative disease (XLP) is a rare genetic disorder characterized by immune dysregulation. The three most common clinical phenotypes are EBV-associated infectious mononucleosis (FIM), abnormal gammaglobulinemia, and lymphoma. We present a rare case of XLP1 with neurovasculitis, which is non-EBV-related and involves multiple systems, a condition rarely seen in children. The patient initially presented with an unsteady gait, which progressively evolved into language and consciousness disorders. Additionally, CT scans revealed multiple nodules in the lungs. Subsequent genetic testing and brain tissue biopsy confirmed the diagnosis: XLP1-related cerebral vasculitis and cerebral hemorrhage. Tragically, during the diagnostic process, the child experienced a sudden cerebral hemorrhage and herniation, ultimately resulting in fatality. This case offers a comprehensive insight into XLP1-related cerebral vasculitis and cerebral hemorrhage, underscoring the significance of early diagnosis and prompt treatment, while also imparting valuable clinical experience and lessons to the medical community.

Bioinformatic analysis of immune-related transcriptome affected by IFIT1 gene in childhood systemic lupus erythematosus.

Background: The interferon-induced protein with tetratricopeptide repeats 1 (IFIT1) gene is strongly associated with disease activity index of childhood systemic lupus erythematosus (SLE). However, whether IFIT1-regulated gene expression is the molecular basis of the pathogenesis of SLE has not been fully investigated. Methods: Dataset GSE11909 was used to analyze the expression profiles of IFIT1 gene in 103 SLE cases and 12 healthy individuals. Differentially expressed genes (DEGs)-affected by IFIT1 gene were screened between the case group and control group, followed by gene function analysis. The clinical diagnostic potential of the least absolute shrinkage and selection operator (LASSO) model, established based on the expression profiles of IFIT1 and IFIFT1-affected DEGs, was evaluated. Analysis of association between IFIFT1-affected DEGs and immune infiltration was performed. Results: IFIT1 was highly expressed in childhood SLE patients. IFIT1 and IFIT1-affected DEGs showed the potential to serve as a diagnostic marker for childhood SLE with area under the curve (AUC) value of 0.947. Childhood SLE patients showed 826 upregulated DEGs and 4,111 downregulated DEGs compared to the control group. Among them, 208 upregulated DEGs and 214 downregulated DEGs were identified in the IFIT1-high group compared to the IFIT1-low group. The LASSO model for the diagnosis of childhood SLE involved 7 marker genes that were related to immune checkpoint and tertiary lymphoid structure in SLE. Conclusions: Our results confirmed the clinical diagnostic potential of IFIT1 and IFIT1-affected genes in childhood SLE. Moreover, this study elucidated that IFIT1-induced changes in the transcriptome are involved in immune checkpoint and tertiary lymphoid structure in childhood.

Serum vitamin D status among healthy children in Hainan, South China: a multi-center analysis of 10,262 children.

Background: There are limited data regarding the prevalence and risk factors relating to vitamin D deficiency (VDD) in children of Hainan, a tropical city with abundant sunlight in China. To gather and analyze the serum VD levels of healthy children in Hainan, so as to understand their VD nutritional status and improve the representative data of VD nutritional status in south China. Methods: Children who presented to the outpatient clinic for physical examination at 4 hospitals in the Hainan Province from 2012 to 2020 were enrolled in this study. The serum 25-hydroxyvitamin D (25-OHD) levels was analyzed. 25-OHD levels <50 nmol/L is considered VDD, 50-75 nmol/L is vitamin D insufficiency (VDI), and ≥75 nmol/L is VD sufficient (VDS). Results: The average serum 25-OHD level was 94.63±49.99 nmol/L [95% confidence interval (CI): 93.67-95.60]. VDD was detected in 13.98% of participants (1,435 cases), VDI was detected in 30.60% of participants (3,140 cases), and 55.42% presented with VDS (5,687 cases). The average 25-OHD level of boys was significantly higher than that of girls (t=3.67, P<0.001). The average serum 25-OHD levels in the following age groups 0-1, 1-3, 3-7, 7-14, and 14-18 years were 105.92±57.39, 100.55±53.22, 86.35±39.19, 73.61±34.21, and 54.97±19.19 nmol/L, respectively. These results suggested that with an increase in age, the 25-OHD levels decreased. The average 25-OHD levels of children with a body mass index (BMI) <85th percentile were significantly higher than that of children in the overweight and obese group (F=7.393, P=0.001). Conclusions: A certain proportion of all age groups showed vitamin D deficiency and insufficiency in Hainan. A formal recommendation for vitamin D supplementation should be considered, especially in autumn and winter seasons for children over 7 years old, and in those with BMI ≥85th percentile or BMI ≥95th percentile.

Efficacy of levetiracetam in the treatment of pediatric epilepsy: A protocol for systematic review and meta-analysis.

BACKGROUND: To systematically collect, critically evaluate, and synthesize current evidence with respect to the efficacy, safety, and tolerability of levetiracetam as mono- or adjunctive therapy for children and adolescents with all types of epilepsy. METHODS: The presentation of methods and results in this systematic review was performed according to the evaluation guidelines for health care interventions provided in the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocol. Literature retrieval will use the Cochrane Library, Web of Science, PubMed, Embase, Allied and Complementary Medicine Database, China Biomedical Literature Database, China National Knowledge Infrastructure, China Science and Technology Journal Database, Wanfang Database, and Ongoing Clinical Trials Database.The risk of bias of included studies is estimated by taking into consideration the characteristics including random sequence generation, allocation concealment, blinding of patients, blinding of outcome assessment, completeness of outcome data, selective reporting and other bias by Cochrane Collaboration's tool. Data synthesis and analyses are performed using RevMan 5.4 software. RESULTS: The results of this systematic review and meta-analysis will be published in a peer-reviewed journal. CONCLUSION: Levetiracetam seems to be effective and safe for the treatment of pediatric epilepsy.

Relationship between catecholamine level and gene polymorphism of ß1 adrenergic receptor G1165C in children with EV71 infection in hand foot and mouth disease.

OBJECTIVE: To investigate the relationship between the levels of plasma adrenaline and norepinephrine and gene polymorphism of ß1 adrenergic receptor G1165C in children with enterovirus 71 (EV71) infection in hand foot and mouth disease (HFMD). METHODS: The polymerase chain reaction (PCR) was used to detect the expression of gene polymorphism of ß1 adrenergic receptor G1165C in vitro. The levels of plasma adrenaline and norepinephrine were measured by enzyme-linked immunosorbent assay (ELISA). RESULTS: The plasma norepinephrine level of severe group was significantly higher than the mild group in children with EV71 infection in HFMD (P < 0.05); however, the levels of plasma adrenaline in two groups had no statistical differences (P > 0.05); There was no significant difference in the distribution of ß1 adrenergic receptor G1165C genotype and allele between EV71 infection group and healthy control group (P > 0.05). Further analysis of EV71 infection group by dividing it into mild and severe groups showed that there was no significant difference in the distribution of genotype and allele between these two groups as well (P > 0.05). There was no significant difference in the levels of epinephrine and norepinephrine in different genotypes of EV71 infection group (P > 0.05), and in the levels of plasma epinephrine and norepinephrine in the mild and severe groups (P > 0.05). CONCLUSIONS: As the disease gets worse, the plasma norepinephrine level has a rising trend in children with EV71 infection in HFMD, which is an important indicator to evaluate the progress of the disease. However, the gene polymorphism of ß1 adrenergic receptor G1165C have no significant correlation, not only with the susceptibility and severity of EV71 infection in hand, foot and mouth disease, but also with the levels of catecholamine.